DNA Sequencing Validation by PCR-RFLP for Evaluating Butyrophilin-like 2 Rs2076530 Polymorphism in Iranian Patients with Sarcoidosis

Overview

Journal Sarcoidosis Vasc Diffuse Lung Dis

Specialties Allergy & Immunology
Cardiology & Vascular Diseases
Pulmonary Medicine

Date 2022 Feb 4

PMID 35115755

Authors

Alireza Javadi

Masoud Zarei

Mihan Pourabdollah

Makan Sadr

Arda Kiani

Atefeh Abedini

Masoud Shamaei

Affiliations

Soon will be listed here.

Abstract

Background: Sarcoidosis is a multifactorial immune disorder with an uncertain origin. A single nucleotide polymorphism (G→A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in the formation of truncating protein. This study aimed to genotype the predisposition of the BTNL2 rs2076530 polymorphism in Iranian patients with sarcoidosis using the RFLP technique.

Materials And Methods: In this study, 80 patients with sarcoidosis and 80 healthy individuals were included. The rs2076530 polymorphism of the BTNL2 gene was genotyped using the PCR-RFLP method by AvrII restriction enzyme and confirmed by DNA sequencing (Capillary electrophoresis 3130, ABI).

Results: There was a statistically significant difference between proportions of patients with AA (47,5%) and controls (27.5%) (OR=2.38, 95%CI:1.23-4.61, P=0.009). In addition, a significant difference was observed in the frequency of the A allele (62.5%) in sarcoidosis (OR=2.14, 95%CI:1.37-3.35, =0.001). A Bonferroni correction with <0.0038 indicates a statistical difference for genotype AA (=0.009). In an effective model, binary logistic regression analysis indicates a statistical association between AA genotype and sarcoidosis (=0.018 with 60% prediction). Based on the gene analysis study using DNA sequencing, all of the mentioned mutations were seen via RFLP.

Conclusion: According to our findings, the BTNL2 rs2076530 A allele in the Iranian population is associated with susceptibility to sarcoidosis. This designed PCR-RFLP method for detecting SNPs is effective as DNA sequencing.

Citing Articles

Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.

Casanova N, Camp S, Gonzalez-Garay M, Batai K, Garman L, Montgomery C Eur J Respir Med. 2024; 5(1):359-371.

PMID: 38390497 PMC: 10883688.

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